GAUCHER DISEASE

There are 200 different pages at this Web Site for the use of
patients with Gaucher's Disease and their doctors.

Most patients have Type 1 disease. But if you are looking for
information on Type 2 or Type 3 we now have a special home page for
Neuronopathic Gaucher Disease. However Type 3
patients should also read information on the main pages which is equally
applicable to them.

All the pages on this site are also available in
Spanish. Some pages have also been translated
into German and Italian and this is shown in the contents below. We are also
starting to translate the site into Russian.
This site looks best if viewed with Internet Explorer 5 or 6.

GAUCHERS NEWS DECEMBER 2005

New Enzyme Trial Update During a recent meeting of the European Study Group of Lysosomal Disorders
in Oslo during September 2005, Prof Ari Zimran from the Gaucher Clinic at
Shaare Zedek Medical Center presented the six months results from the Phase
I/II clinical trial of a new enzyme preparation. (December
2005).

Orthopaedic Aspects of Gauchers
DiseaseProfessor Henry J Mankin MD, former Chief of Orthopaedic
Service, Massachusetts General Hospital and Professor of Orthopaedics in
Harvard Medical School visited the Royal Free Hospital, London to present a
lecture. (December 2005).

Future Developments for Gauchers
DiseaseAmicus Therapeutics, a biopharmaceutical company based in New
Jersey USA, is developing a series of drugs called small molecule
pharmacological chaperones to treat human genetic diseases and is planning to
initiate clinical studies of a small molecule chaperone called AT2101 for
Gaucher disease in the first six months of 2006. (December
2005).

Mistry AppointmentDr Pram Mistry
was appointed Chief of Pediatric Hepatology and Gastroenterology at Yale
University on 1 October 2005. He will continue to see patients with Gauchers
disease at his dedicated Gaucher Centre in New Haven and visit his outreach
clinic in Arizona amongst his many other duties. (December
2005).

Genetic Defect Linked to Structural
Defect Scientists at the Weizmann Institute in Israel, together with an
American team based at the Scripps Research Institute in California, have
succeeded for the first time to link the specific structural genetic mutations
in Gaucher disease to the resulting mechanical dysfunction of the enzyme
glucocerebrosidase. (December 2005).

Russian Patient Association
meeting100 delegates including families, physicians, patients with
Gauchers disease, Ministry of Health personnel and patient representatives from
10 European Gaucher Associations met in Moscow for the first meeting of the
Russian Patient Association on 15 - 17 May 2005. (December
2005).